Associated Papers
The role of NOTCH3 in CADASIL pathogenesis: insights into novel therapies.
Felix-Ilemhenbhio F et al.
Brain Research, 2025
Synergistic effects of mutation and glycosylation on disease progression.
Suzuki S et al.
Frontiers in Molecular Biosciences, 2025
The N-acetylglucosaminyltransferase Radical fringe contributes to defects in JAG1-dependent turnover and signaling of NOTCH3 CADASIL mutants.
Suzuki S et al.
The Journal of Biological Chemistry, 2024
Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.
Mizuta I et al.
Biomolecules, 2024
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ et al.
Brain : a Journal of Neurology, 2023
ER stress induced immunopathology involving complement in CADASIL: implications for therapeutics.
Panahi M et al.
Acta Neuropathologica Communications, 2023
Lunatic fringe promotes the aggregation of CADASIL NOTCH3 mutant proteins.
Suzuki S et al.
Biochemical and Biophysical Research Communications, 2021
Clinical presentation of Y189C mutation of the NOTCH3 gene in the Polish family with CADASIL.
Dorszewska J et al.
Folia Neuropathologica, 2020
Clinical and Genetic Aspects of CADASIL.
Mizuno T et al.
Frontiers in Aging Neuroscience, 2020
Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW et al.
Expert Review of Molecular Diagnostics, 2014
Experimental studies of mitochondrial function in CADASIL vascular smooth muscle cells.
Viitanen M et al.
Experimental Cell Research, 2013
CADASIL mutations and shRNA silencing of NOTCH3 affect actin organization in cultured vascular smooth muscle cells.
Tikka S et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2012
Transendocytosis is impaired in CADASIL-mutant NOTCH3.
Watanabe-Hosomi A et al.
Experimental Neurology, 2012
Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.
Meng H et al.
Plos One, 2012
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.
Yamamoto Y et al.
Neuropathology and Applied Neurobiology, 2011
Potent inhibitors of amyloid β fibrillization, 4,5-dianilinophthalimide and staurosporine aglycone, enhance degradation of preformed aggregates of mutant Notch3.
Takahashi K et al.
Biochemical and Biophysical Research Communications, 2010
Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.
Takahashi K et al.
Human Molecular Genetics, 2010
Notch signaling in the vasculature.
Gridley T
Current Topics in Developmental Biology, 2010
Genetics of ischemic stroke: inheritance of a sporadic disorder.
Ross OA et al.
Current Neurology and Neuroscience Reports, 2009
CADASIL-causing mutations do not alter Notch3 receptor processing and activation.
Low WC et al.
Neuroreport, 2006
CADASIL: a critical look at a Notch disease.
Louvi A et al.
Developmental Neuroscience, 2006
Functional analysis of a recurrent missense mutation in Notch3 in CADASIL.
Haritunians T et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2005
The spectrum of mutations for CADASIL diagnosis.
Federico A et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2005
The pathogenesis of CADASIL: an update.
Kalaria RN et al.
Journal of the Neurological Sciences, 2004
Cerebral microbleeds in CADASIL: a gradient-echo magnetic resonance imaging and autopsy study.
Dichgans M et al.
Stroke, 2002
Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.
Escary JL et al.
Human Mutation, 2000
CADASIL: hereditary arteriopathy leading to multiple brain infarcts and dementia.
Viitanen M et al.
Annals of the New York Academy of Sciences, 2000
CADASIL: hereditary disease of arteries causing brain infarcts and dementia.
Kalimo H et al.
Neuropathology and Applied Neurobiology, 1999
[CADASIL disease: a hereditary arterial disease leading to brain infarctions and dementia].
Kalimo H et al.
Duodecim; Laaketieteellinen Aikakauskirja, 1998